Skip to content
Home Search Guides Journals Learning Our Team Get the App
🌐 ENESFRPT
FRELIP Logo

FRELIP Discovery Search

Open Access Catalog for African Scholarship

  • Channels
Search for more channels:

Author: Akinyi, Maureen Veronica

  • Author: Majara, Lerato Charlotte
  • Author: Matimba, Alice
  • Author: Meyer, Jacqueline
  • Author: Ruppelt, Theresa
  • Author: Savitz, Jonathan
  • Author: Weideman, Reinette
  • Show items as search results
  • Explore related channels
  • Quick Look
    Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype

Author: Chambuso, Ramadhani Salum

  • Author: Majara, Lerato Charlotte
  • Author: Matimba, Alice
  • Author: Meyer, Jacqueline
  • Author: Ruppelt, Theresa
  • Author: Savitz, Jonathan
  • Author: Weideman, Reinette
  • Show items as search results
  • Explore related channels
  • Quick Look
    Human Immunodeficiency Virus/Human Papillomavirus co-infection and host molecular genetics of cervical carcinoma

Similar Items: Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype

  • Similar Items: Pharmacogenetics of African populations : variation in major drug metabolising enzyme...
  • Similar Items: Pharmacogenomic profiling and clarification of the role of the mismatch repair genes...
  • Similar Items: Human Immunodeficiency Virus/Human Papillomavirus co-infection and host molecular gen...
  • Similar Items: A Genome-wide Association Study of Schizophrenia in the South African Xhosa and Gener...
  • Similar Items: The genetics of lithium-induced adverse drug reactions in bipolar disorder patients :...
  • Similar Items: The molecular genetics of bipolar affective disorder : South African populations, end...
  • View Record
  • Explore related channels
  • Quick Look
    Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa
  • Quick Look
    A molecular investigation of the novel gene underlying autosomal dominant retinitis pigmentosa in a South African family
  • Quick Look
    An investigation into the molecular mechanisms underlying retinitis pigmentosa 17 with the view to developing novel gene- based therapies
  • Quick Look
    Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
  • Quick Look
    Genetic analysis of inherited retinal diseases in indigenous Southern African populations
  • Quick Look
    Identification and functional characterisation of G protein-coupled receptor three prime untranslated region transcript variants in cancer cell models
  • Quick Look
    Mutation analysis of important retinal candidate genes: progression from research to diagnostic service
  • Quick Look
    Assessment of the Lifetime Costs of Severe Visual Impairment Due to Retinitis Pigmentosa
  • Quick Look
    Virus restriction gene variants and their possible role in neurocognitive function in children born to HIV-infected mothers
  • Quick Look
    ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants
  • Quick Look
    Optic disc drusen and a constellation of other features of retinitis pigmentosa: a case report
  • Quick Look
    Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
  • Quick Look
    Investigating the functional significance of genome-wide variants associated with antipsychotic treatment response in schizophrenia
  • Quick Look
    Sickle cell trait and targeted genomic variants in chronic kidney disease an African cohort
  • Quick Look
    Investigating novel variants associated with the isoniazid resistance phenotype in MDR-TB using whole genome sequencing
  • Quick Look
    Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I
  • Quick Look
    Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon
  • Quick Look
    Analysis of genetic variants in the 5’ regulatory region of the ALAS1 gene in South African patients with Variegate Porphyria (VP)
  • Quick Look
    APOE, PCSK9, and CETP genetic variants as potential biomarkers of dyslipidaemia in black South Africans with Type 2 Diabetes Mellitus
  • Quick Look
    Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
  • Quick Look
    Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon
  • Quick Look
    Pharmacogenomics of sickle cell disease therapeutics: pain and drug metabolism associated gene variants and hydroxyurea-induced post-transcriptional expression of miRNAs
  • Quick Look
    Correction to “Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome”
  • Quick Look
    Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8

Similar Items: Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting

  • Similar Items: Pharmacogenetics of African populations : variation in major drug metabolising enzyme...
  • Similar Items: Pharmacogenomic profiling and clarification of the role of the mismatch repair genes...
  • Similar Items: Human Immunodeficiency Virus/Human Papillomavirus co-infection and host molecular gen...
  • Similar Items: A Genome-wide Association Study of Schizophrenia in the South African Xhosa and Gener...
  • Similar Items: The genetics of lithium-induced adverse drug reactions in bipolar disorder patients :...
  • Similar Items: The molecular genetics of bipolar affective disorder : South African populations, end...
  • View Record
  • Explore related channels
  • Quick Look
    Copy number variation: an important genetic mechanism in-related immunoosseous dysplasia (Schimke type) in Indian patients
  • Quick Look
    Chemical Exposure Generates DNA Copy Number Variants and Impacts Gene Expression
  • Quick Look
    Diagnosis of copy number variants using array-based comparative genomic hybridisation in fetuses and neonates with congenital abnormalities in a South African population
  • Quick Look
    Phenotypic and whole-genome single nucleotide polymorphisms (SNP) characterization of Mozambican indigenous cattle breeds
  • Quick Look
    Characterisation of novel TAC3 and TACR3 gene variants and polymorphisms in patients with pre-eclampsia
  • Quick Look
    Genome-wide scan of single nucleotide polymorphisms for parentage analyses in South African indigenous beef breeds
  • Quick Look
    Copy number variations in South African Nguni cattle : prevalence, characterization and genetic diversity
  • Quick Look
    Identification of single nucleotide polymorphisms in inflammatory bowel disease patients on azathioprine therapy
  • Quick Look
    Genomic Map of Escherichia coli and Single Nucleotide Polymorphism Markers in Colorectal Cancer
  • Quick Look
    Characterisation of a high copy number mutant pAL5000 origin of replication
  • Quick Look
    Single Nucleotide Polymorphisms Of Insulin-Like Growth Factor 2 (Igf-2) Gene Associated W Ith Bodyweights Of Nigerian Locally Adapted Turkey
  • Quick Look
    Genome-wide characterization of copy number variants and their functional relevance in indigenous draught cattle of South Asia
  • Quick Look
    Analysis of single nucleotide polymorphisms with opposite effects on serum iron parameters in South African patients with multiple sclerosis
  • Quick Look
    New tools for comparative genomics based on oligonucleotide compositional constraints and single nucleotide polymorphisms
  • Quick Look
    Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes
  • Quick Look
    Correction: Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses
  • Quick Look
    Investigating mitochondrial DNA sequence variation and copy number in individuals of African ancestry living with Parkinson’s disease.
  • Quick Look
    A systematic review of the role of genomic copy number variation in cattle (Bos taurus) production and associated genes
  • Quick Look
    Single‐nucleotide polymorphisms in coronary artery disease: Biological complexity, risk architecture, and implications for precision prevention
  • Quick Look
    The total mass, copy number, and distribution of hormones in the human bloodstream
  • Quick Look
    Evaluation of single nucleotide polymorphisms in virulence genes of Mycobacterium tuberculosis as markers of lineages and sub-lineages in Tshwane region
  • Quick Look
    Chromatin insulators homie and nhomie can interact with distant copies either together or separately, with distinct outcomes for enhancer-promoter interactions
  • Quick Look
    Analysis of copy number variation and disease mechanisms underlying Parkinson’s disease
  • Quick Look
    A genome-wide single nucleotide polymorphism-based investigation of coat colour variation in indigenous South African goats

About FRELIP

Free eLibrary Portal (FRELIP) provides access to academic resources, research materials, and scholarly publications from African universities and global repositories.

Quick Links

  • FRELIP Home
  • About FRELIP
  • Our Team
  • Research Guides
  • Search Catalog
  • Learning Platform
  • Course Catalogue

Resources

Indexed Records: 140,000+
Disciplines: 18
Subjects: 155

FRELIP is the leading open-access discovery platform — born in Nigeria, built for African scholarship, serving the world.

© 2026 FRELIP - Free eLibrary Portal | frelip.org | Powered by VuFind

Follow FRELIP